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Purpose: As the feeling of happiness in multiple sclerosis (MS) is not investigated in Bulgaria yet, we decided to reveal some essential features of this non-motor symptom in multiple sclerosis patients with and without comorbidity. Material/Methods: We examined 80 MS patients, 56 females and 24 males, at a mean age of 49 years. Forty of them presented with multiple sclerosis alone, and 40 did with multiple sclerosis and accompanying diseases. Health-related quality of life was assessed by means of Short Form-36 questionnaire and Multiple Sclerosis Quality of Life Questionnaire with 54 items. Results: We established a lower frequency of feeling of happiness reported in MS patients with comorbidity. There were statistically significant positive correlations between the health status self-assessment and MS influence upon the feeling of happiness (R=0.428; p

Chronic neurotoxicity of lead is a major problem in all countries around the world. Long-term exposure to lead in the environment has recently become of interest as a possible risk factor for cognitive impairment in workers exposed to lead. The consequences for the brain after cessation of the exposure are also subject to research. The aims of our study were: to investigate and analyze cognitive impairment in workers in professional contact with lead. For the purpose of the study, a total of 72 workers in chronic professional contact with lead aerosols were examined. The investigated men (n = 72) were aged 39.4 ± 10.4 (19 - 58) years with an average duration of service of 13.0 ± 8.7 (1 - 33) years and mean lead concentration in blood of 43.4 ± 9.0 μg / dl. The screening set included a subjective cognitive impairment survey, a depression scale, a set of cognitive tests (MMSE, IST, DRT, CDT), and a scale for activities of daily living (4-IADL Score). With the increase of lead levels in the blood, a statistically reliable trend is observed for decrease of MMSE, IST and CDT scores. Eleven of the screened individuals (15.28%) achieved a score of

Summary Background No treatment has consistently shown efficacy in slowing disability progression in patients with secondary progressive multiple sclerosis (SPMS). We assessed the effect of siponimod, a selective sphingosine 1-phosphate (S1P) receptor 1,5 modulator, on disability progression in patients with SPMS. Methods This event-driven and exposure-driven, double-blind, phase 3 trial was done at 292 hospital clinics and specialised multiple sclerosis centres in 31 countries. Using interactive response technology to assign numbers linked to treatment arms, patients (age 18–60 years) with SPMS and an Expanded Disability Status Scale score of 3·0–6·5 were randomly assigned (2:1) to once daily oral siponimod 2 mg or placebo for up to 3 years or until the occurrence of a prespecified number of confirmed disability progression (CDP) events. The primary endpoint was time to 3-month CDP. Efficacy was assessed for the full analysis set (ie, all randomly assigned and treated patients); safety was assessed for the safety set. This trial is registered with ClinicalTrials.gov, number NCT01665144. Findings 1651 patients were randomly assigned between Feb 5, 2013, and June 2, 2015 (1105 to the siponimod group, and 546 to the placebo group). One patient did not sign the consent form, and five patients did not receive study drug, all of whom were in the siponimod group. 1645 patients were included in the analyses (1099 in the siponimod group and 546 in the placebo). At baseline, the mean time since first multiple sclerosis symptoms was 16·8 years (SD 8·3), and the mean time since conversion to SPMS was 3·8 years (SD 3·5); 1055 (64%) patients had not relapsed in the previous 2 years, and 918 (56%) of 1651 needed walking assistance. 903 (82%) patients receiving siponimod and 424 (78%) patients receiving placebo completed the study. 288 (26%) of 1096 patients receiving siponimod and 173 (32%) of 545 patients receiving placebo had 3-month CDP (hazard ratio 0·79, 95% CI 0·65–0·95; relative risk reduction 21%; p=0·013). Adverse events occurred in 975 (89%) of 1099 patients receiving siponimod versus 445 (82%) of 546 patients receiving placebo; serious adverse events were reported for 197 (18%) patients in the siponimod group versus 83 (15%) patients in the placebo group. Lymphopenia, increased liver transaminase concentration, bradycardia and bradyarrhythmia at treatment initiation, macular oedema, hypertension, varicella zoster reactivation, and convulsions occurred more frequently with siponimod than with placebo. Initial dose titration mitigated cardiac first-dose effects. Frequencies of infections, malignancies, and fatalities did not differ between groups. Interpretation Siponimod reduced the risk of disability progression with a safety profile similar to that of other S1P modulators and is likely to be a useful treatment for SPMS. Funding Novartis Pharma AG.

Gerstmann syndrome is a classical cerebral syndrome in neurology, named after Joseph Gerstmann, a Jewish Austrian-born American neurologist. Patients present with a tetrad of cognitive symptoms, including agraphia, acalculia, finger agnosia and left-right disorientation. The syndrome is known to result from a lesion of the posterior portion of the dominant parietal lobe and is usually due to stroke or to developmental problems. We describe the case of a 35-year-old man whose illness debuted about 9 months before the initial presentation to the neurology clinic, with memory complaints, anxiety, verbal aggression, sleeping problems, as well as subjective word finding difficulty and depressed mood. The patient had 3 out of the 4 classic symptoms of Gerstmann syndrome, among other, mostly neuropsychiatric symptoms. Initially, structural lesions were sought for, but were not found on magnetic resonance imaging. Psychiatric conditions were discussed but not confirmed by the consulting psychiatrist. We are prone to accepting a non-organic reason for the condition of the patient, but follow-up of the clinical course and repeated assessments, including neuropsychological and psychiatric evaluations, structural and possibly functional neuroimaging will be required to verify and confirm this presumption.

Amyotrophic lateral sclerosis (ALS) is a severe and fatal neurodegenerative disorder affecting both the upper and lower motor neurons. We present the clinical cases of four patients with ALS and vibration syndrome. All patients had over 20 years of exposure to general and local vibrations and common subjective complaints: pain, paresthesia, twitching and weakness of limb muscles. Evidence of ALS syndrome was demonstrated by the abnormal neurological examination (pseudobulbar syndrome and pyramidal signs) as well as by neurophysiological studies (peripheral motor neuron degeneration). We discuss the possible relationship between the exposure to general and local vibrations and the ALS syndrome in our patients, and the role of vibrations as a possible risk factor for the disease. Occupational contact with chemicals and pesticides is also discussed as a risk factor.

Ollier disease, also known as enchondromatosis, is a rare skeletal disease with an estimated prevalence of about 1/100,000. It is characterized by the presence of multiple intraosseous, usually benign cartilage tumors, enchondromas, showing a risk of malignant transformation. The latter is very likely in patients with Maffucci syndrome, where, in addition to enchondromatosis, multiple hemangiomas are observed. Cases of the disease with involvement of the skull bones and intracranial tumor masses have been described in the literature. According to some authors, the treatment of intracranial enchondromes is surgical, aiming at a complete removal. According to others, emphasis should be placed on monitoring, as lesions may remain asymptomatic and surgical resection may lead to additional complications. This article presents the case of a woman with known Ollier disease, hospitalized because of severe headache and blurred vision, presenting with limited mobility of the eyeballs inwards and upwards, with computed tomography data for tumor formation on the right parasellar with multiple cell calcifications interpreted as related to the underlying disease. Some diagnostic and therapeutic challenges in this rare pathology have been discussed.

Background: The continuous progress of information technology has made possible the creation of tools for post processing of magnetic resonance and other imaging modalities, including software programmes aimed at volumetric studies of the brain. They have the potential to enrich visual data with precise numeric values but have to be used with caution because of their possible susceptibility to errors if scans with specific pathology are fed in. Objective: The purpose of the present study is to assess whether filling white matter lesions on magnetic resonance scans of multiple sclerosis patients would influence volumetric values. Methods: MS lesions were filled on T1 3D images of 49 patients by the lesion-filling algorithm of FSL, using previously created lesion masks. Volumes of brain grey and white matter, peripheral grey matter and ventricle CSF were calculated using SIENAX for the filled and non-filled series, which were then compared. Results: There were statistically significant differences for white matter volume before and after lesion filling (p

Miller Fisher syndrome is a rare neurological disease that is considered to be a variant of Guillain-Barre syndrome. It is characterized by abnormal muscle coordination (ataxia), paralysis of the eye muscles (ophthalmoplegia), and absence of the tendon reflexes (areflexia). Additional symptoms include generalized muscle weakness and respiratory failure. Symptoms are usually preceded by a viral illness. This paper describes a clinical case of the syndrome in a patient who presented primarily with blurred and double vision, and gait disturbance.

Background: Demyelination and neurodegeneration are hallmarks of multiple sclerosis (MS). Axonal damage is considered to be the leading factor for persisting disability in the course of the disease. In different studies, expanded disability status scale (EDSS) scores have been found to correlate with brain atrophy, lesion load, or both. Objective: To assess the possible correlations between EDSS scores and volumes of brain, grey and white matter, and subcortical structures in patients with relapsing-remitting multiple sclerosis. Subjects and Methods: 46 patients with RRMS were included in the study. Total brain volume, grey and white matter volumes were calculated using SIENAX, and subcortical structure volumes were obtained using FIRST, parts of FSL. EDSS was scored by a qualified rater. Statistical analysis was performed. Results: Moderate negative correlation of EDSS was demonstrated with total brain volume, grey and white matter volume, volumes of left and right pallidum, putamen, caudate nucleus, n. accumbens (p

There is recent evidence of co-occurrence of benign and malignant brain tumours and cerebrovascular disorders in the same patients. The present concise review analyzes the newly-published foreign literature on this actual topic. The epidemiological investigations reveal an association between the acute ischaemic and haemorrhagic stroke, on the one hand, and some common cerebral neoplasms, on the other hand. The role of modern thrombolytic therapy in such patients is outlined. The risks of chemotherapy and radiotherapy for the development of stroke should be taken into consideration. A series of interesting rare cases illustrating the diagnostic and therapeutic opportunities in the patients presenting with simultaneous or consecutive common cerebral neoplasms and stroke proves the necessity of careful diagnosis and timely management of these patients in the routine clinical practice.

Background: Syphilis is not only a disease of historical importance. It has been recognized that nowadays, in the era of AIDS, it still remains a serious challenge. For the last two decades there has been a resumption of neurosyphilis cases. This has revived the interest in the diagnostic and therapeutic challenges that the disease presents to clinical practice and to healthcare systems. Material/Methods: We present the overall picture of newly registered cases of syphilis in Varna municipality between 2009 and 2013, and report a case of neurosyphilis diagnosed at the first clinic of neurological diseases of St. Marina University Hospital during this period. Results: For the 5-year period, newly registered cases of syphilis in Varna have shown a tendency towards a decrease. Patients were typically in the early stages of the disease, primary and secondary. Late manifestations dropped from 29 in 2009 to 0 in 2010, but increased again to 15 in 2013. Only 1 case of neurosyphilis was registered during the 5-year period, in 2013. Conclusions: Neurological syndromes observed in cases of late neurosyphilis, presenting in different clinical forms, require a broad spectrum of differential diagnoses. Attention in everyday clinical practice should be focused on these cases which, though rare, are of high medical and social importance. Clinical cases of late neurosyphilis are often atypical and the early consideration of serologic tests or even biopsy may be of critical importance.

Summary The aim of the investigation was to analyze the correlation between myocardial infarction and ischemic heart disease, on the one hand, and acute ischemic stroke (AIS), on the other hand. We studied 258 AIS patients (mean age 70.9±7.22 years, range 49-92 years) hospitalized in 2007-2013 in the First Clinic of Neurology, St. Marina University Hospital of Varna. The diagnosis of acute ischemic stroke was confirmed by Doppler sonography and computed tomography of the cerebral circulation. Data were statistically processed by variation and correlation analysis. Our results proved a relatively strong correlation between effort angina pectoris and ischemic heart disease (Pearson's coefficient: r=0.643) as well as a weak correlation between ischemic heart disease and myocardial infarction (Pearson's coefficient: r=0.243) among acute ischemic stroke patients. The well-known risk factors for these cardiovascular diseases such as obesity, tobacco smoking, low physical activity and alcohol abuse were common among the patients with acute ischemic stroke, too. In conclusion, both myocardial infarction and ischemic heart disease are strongly associated with the development of acute ischemic stroke. Such patients require strict and regular control by general practitioners. They should observe an appropriate diet and adhere to a healthy life-style.

Summary The objective of this study was to analyze the association between some cardiovascular diseases and acute ischemic stroke. A total of 258 acute ischemic stroke patients (mean age 70.59±7.22 years) were examined. The presence of eight cardiovascular diseases and pathological conditions was analyzed: arterial hypertension, hypertensive heart, atrial fibrillation, myocardial infarction, ischemic heart disease, effort angina pectoris, coronary atherosclerosis, and heart failure. Data were statistically processed by variation and correlation analysis. Most male and female patients presented with four accompanying cardiovascular diseases (27 or 20.93% and 31 or 24.03% of the cases, respectively). There were two groups of four variables each - with a relatively strong and a moderate, as well as with a weak correlation (r

Summary The purpose of this study was to analyze the disturbances of glucose, lipid and protein metabolism in acute ischemic stroke patients. A total of 258 patients (mean age 70.9±7.22 years, range 49-92 years) were studied. The following parameters were examined: blood glucose, triglycerides, total cholesterol, HDL-cholesterol, LDL-cholesterol, creatinine, and urea. Data were statistically processed by variation and correlation analysis. Our results demonstrated abnormal values of these laboratory parameters in most patients. The mean concentrations of triglycerides, total cholesterol and LDL-cholesterol were higher in females, while these of blood glucose were higher in males, especially in the age group between 76 and 80 years. Pearson’s correlation coefficient was highest between the variables ‘total cholesterol’ and ‘LDL-cholesterol’ (r=0.797) but moderate - between some of the rest variables such as ‘creatinine’ and ‘urea’ (r=0.575); ‘total cholesterol’ and ‘triglycerides’ (r=0.565); ‘total cholesterol’ and ‘urea’ (r=0.428); ‘triglycerides’ and ‘urea’ (r=0.370) and ‘LDL-cholesterol’ and ‘urea’ (r=0.301). In conclusion, the metabolic disorders are relatively common among acute ischemic stroke patients and play a specific role as risk factors for this disease. These parameters should regularly be controlled within the outpatient practice in order to warrant an effective prevention of acute ischemic stroke.

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and there is no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50% chance of inheriting the faulty gene. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10- to 25-year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that causes HD, but only those that inherit the expansion of the gene will develop HD and perhaps pass it on to each of their children. Every person who inherits the expanded HD gene will eventually develop the disease. Over time, HD affects the individual’s ability to reason, walk and speak. Hereby, we describe the case of a 35-year-old patient with HD presenting with cognitive and motor disturbances to underline the diagnostic challenges and differential diagnostic options.

Seizure severity emerges as an important aspect of epilepsy. This is most relevant in refractory patients in whom complete remission of seizures is unlikely and reduced seizure severity may be a significant determinant of psychosocial well-being with a consequent improvement in quality of life (QOL). Thus a valid measure of seizure severity can serve both as an indicator of clinical outcome and as an evaluation tool of the interaction between seizures and the psychosocial complications of epilepsy. After a brief review of the most frequently used scales measuring seizure severity in adults with epilepsy we have explored the relationship between seizure severity and QOL in a set of 103 patients. Two self-evaluation questionnaires were applied: the Seizure Severity Questionnaire (SSQ) and the Quality of Life in Epilepsy Inventory (QOLIE-31). The severity of the coexisting depression, an important confounder in the relationship between seizure severity and QOL, was assessed by the Hamilton Depression Rating Scale (HAMD-17). All domains of the Quality-of-Life in Epilepsy Inventory (QOLIE-31) correlated highly significantly with seizure severity (p≤0.01). The correlation was strong for the Overall score (r=-0.70; p≤0.001) and the Seizure worry domain (r=-0.71; p≤0.001). When the potentially confounding effect of depression was controlled for, the regression of seizure severity with the QOLIE-31 Overall score (P=0.001; R 2 =0.56) and the Seizure worry domain (P=0.001; R 2 =0.50) remained significant. These findings indicate that seizure severity is strongly associated with QOL in epilepsy and could be used as an alternative indicator of outcome in clinical research.

The development of sophisticated magnetic resonance imaging techniques and software for medical imaging processing and analysis has led to a significant progress in multiple sclerosis research and clinical care. The measurement of brain volumes provides a quantitative representation of damage, thus facilitating the objective follow-up process. The parameters obtained, though not being used routinely in clinical practice, are more and more often applied in clinical studies. The amount of whole brain and regional atrophy, estimated from serial scans, is considered important not only for disease progression, but also for cognitive dysfunction which is common in multiple sclerosis. In this paper we describe a volumetric study of two magnetic resonance scans of a patient with relapsing-remitting multiple sclerosis, performed 16 months one after the other, and analyzed using FSL SIENA software. Analysis demonstrated brain volume reduction of 1.7% between the two scans. We discuss the advantages of the method and its possible clinical applications.

Depressive disorders are the most frequent psychiatric comorbidity in epilepsy. Depressive mood affects negatively quality of life (QOL) ratings, sometimes having greater impact than seizure-related variables. Women with epilepsy are a specific subgroup at risk of comorbid depression in consequence of certain biopsychosocial demands. The AIM of this study was to assess the relative contribution of mood, seizure-related and demographic variables on QOL scores in women with epilepsy of childbearing age. SUBJECTS AND METHODS: A psychiatric assessment was carried out of 65 women with epilepsy (aged 18-55, mean 37.23 ± 11.83 yrs). Comorbid depressive disorder was diagnosed according to ICD-10 criteria. Its severity was evaluated on the Hamilton Depression Rating Scale (HAMD-17). A questionnaire for demographic and seizure-related variables was completed. Two self-assessment questionnaires were administered: the Seizure Severity Questionnaire (SSQ) and the Quality of Life in Epilepsy Inventory-31 (QOLIE-31). The data were analysed using SPSS for Windows (version 17.0). Univariate correlation and multiple stepwise regression analyses were performed to explore the association between possible prognostic variables (independent variables) and QOLIE-31 overall and subscale scores (dependent variables). RESULTS: Analysis showed that demographic factors: employment and education; seizurerelated factors: seizure severity, seizure frequency, antiepileptic drug therapy and comorbid depressive disorder were the variables significantly associated with QOLIE-31 overall score (p < 0.01). A three variable model accounted for 64.8% of the variance in QOLIE-31 overall score including seizure severity, comorbid depression and seizure frequency. CONCLUSIONS: Clinical factors are the strongest predictors of QOL of women with epilepsy in our study, seizure severity and comorbid depression being the main contributors. Paying attention to the psychological needs of women with epilepsy will have a positive effect on their QOL.

A misbalance between proliferation and differentiation of neural stem cells in niches for adult brain neurogenesis is a key mechanism in glioma pathogenesis. In the adult brain, the expression of Pax6 marks stem cells in the forebrain neurogenic niche. We analyzed the expression profile of the two active in vertebrates Pax6 isoforms, Pax6 and Pax6-5a, along with the expression of microRNA cluster miR-183-96-182 in a large set of glioma patient specimens and glioma cell lines which showed opposite expression level, low and high, respectively, with the progression of tumor malignancy. Our results from biochemical and in vitro studies in glioma cell lines disclosed a specific regulation of the PAX6-5a isoform by miR-183. Mechanistically, we show that the downregulation of the lipid kinase SPHK1 by both PAX6 isoforms and the simultaneous induction of CTNDD2 expression, specifically by PAX6-5a, results in reduced glioma cell survival, decreased migration and invasion and increased cell death, in glioma cell lines. Taken together, our findings point towards the important role of PAX6 and define PAX6-5a as a new essential player in glioma development. Finally, we propose that the expression level of TFs PAX6/PAX6-5a and miR-183-96-182 may potentially serve as prognostic markers for the progression of glioma tumors from low- to high-grade with a potential to identify new therapeutic approaches.

Thrombosis of the cerebral veins and sinuses is an infrequent cerebrovascular disorder. Because the highly variable symptoms, recent neuroimaging plays a key role in the diagnosis. Abducens nerve palsy as a focal neurological deficit is a rare clinical manifestation in these patients. We present two cases with sudden onset of diplopia and headache. Case 1: A 3-year old girl with B cell lymphoblastic leukemia developed bilateral abducens deficit and bilateral optic disc edema after treatment including L-asparaginase. Thrombosis of the right jugular vein, sagittal and right sigmoid sinuses was visualized on magnetic resonance imaging (MRI) and magnetic resonance venography (MRV). Symptoms gradually resolved after treatment with enoxiparine and MRV demonstrated recanalization. Case 2: A 75-year old female with medical history of arterial hypertension presented with headache and sudden left abduction deficit. Computerized tomography (CT) scan was normal. MRI and MRV revealed aging brain and disruption of venous flow at the left internal jugular vein, suspecting thrombosis. Extracranial colour duplex sonography and CT angiography proved haemodinamic equivalent of left internal jugular vein thrombosis due to sclerotic pathology of aortic arch. Our first case illustrates the role of improved neuroimaging techniques as the best method for diagnosis of cerebral veins and sinuses thrombosis, presenting with abducens nerve palsy. With second case the potential neuroimaging pitfalls concerning the accurate diagnosis of these cerebrovascular disorders with neuro-ophthalmologic manifestation are discussed.

353 ABSTRACT Introduction: Refractory epilepsy is common in patients with structural brain lesions including acquired disorders and genetic abnormalities. Recently, MRI is a precise diagnostic tool for recognition of different structural causes underlying medically intractable seizures. Objective: To evaluate the usefulness of MRI for detection of brain lesions associated with refractory epilepsy. Material and methods: 49 patients (20M and 29F; aged 48.6±24.7 years) with refractory epilepsy were included in the study. They presented with partial (46.0%), secondary (31.0%) or primary (23.0%) generalized tonic-clonic seizures. Clinical diagnosis was based on the revised criteria of ILAE. Structural neuroimaging (MRI), EEG recording, and neurological examination were performed Results: MRI detected different structural brain abnormalities totally in 36 (73.5%) patients, including cerebral tumors (21p), cerebrovascular accidents (5p), hyppocampal sclerosis (3p), developmental malformations (2p), postencephalitic lesions (2p), arachnoid cysts (2p), and tuberous sclerosis (1p). Neuroimaging revealed normal findings in 13 (27.5%) cases. EEG recordings showed focal epileptic activity in 38 (77.6%) patients, including 33 cases with and 5 without structural brain abnormalities. Conclusion: This study revealed that structural brain lesions are commonly associated with refractory epilepsy. We suggested that MRI is a useful diagnostic method for assessment of patients with uncontrolled seizures or altered epileptic pattern

SUMMARY Findings about the possible relation between smoking and dementia are ambiguous. Earlier research is dominated by the statement that smoking is a protective factor for Alzheimer’s disease while later reports affirm that it could increase the risk for AD, and cessation could lower it to a certain degree. Some studies fail to establish an association between smoking and dementia or AD. The role of alcohol consumption as a risk factor for these disorders is also subject to discussion. Smoking, alcohol consumption and their possible relationships with dementia in persons over the age of 65 were assessed in the framework of a dementia prevalence study in the city of Varna, Bulgaria. No statistically significant correlations were found between the diagnosis of dementia, Alzheimer’s disease, vascular dementia, MCI, and the above-mentioned risk factors. This corresponds to the ambiguous data in the literature, where no clear statement exists whether smoking and alcohol consumption could be regarded as risk factors for dementing disorders or not.

This chapter covers the basic knowledge on interactions between the central nervous system and immunity. It presents information about the main factors and mecha‐ nisms that refer to the traditional and new concepts on immune privilege of the brain. In addition, the immune surveillance and tolerance are discussed in context of the central nervous system homeostasis, production of autoreactive lymphocytes, and neurons vulnerability. Certain general aspects in principles of positron emission tomography (PET) techni‐ que, radiotracer characteristics, and specificities of the cerebral glucose uptake are provided. The chapter also offers an overview of the current clinical application of (18F)-FDG PET imaging in the detection and differential diagnosis of different auto‐ immune disorders of the central nervous system. This chapter reviews the autoimmune underlying mechanisms and main abnormali‐ ties in cerebral glucose metabolism in patients with multiple sclerosis, late-onset atax‐ ias, and limbic encephalitis. Own clinical observations and results are presented in accordance to previous publications. Neuroimaging findings are discussed in context of PET sensitivity and accuracy for assessment of disease localization and characteri‐ zation.

GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from North West India. The clinical features in the Bulgarian GNE group can be described with disease onset mostly in the third decade, but in individual cases, onset was as early as 10 years of age. The majority of patients had foot drop as the first symptom, but three patients developed hand weakness first. Muscle weakness was early and severe for the tibialis anterior, and minimal or late for quadriceps femoris, and respiratory muscles were only subclinically affected even in the advanced stages of the disease. During a 15-year follow-up period, 32 patients became non-ambulant. The average period between disease onset and loss of ambulation was 10.34 ± 4.31 years, ranging from 3 to 20 years. Our analysis of affected sib pairs suggested a possible role of genetic modifying factors, accounting for significant variation in disease severity.

Germinomas are the most frequent type of germ cell tumors that constitute only 2-5% of all central nervous system malignancies. Most of them arise in the pineal and suprasellar regions but in about 5% to 10% the simultaneous location is found. Although their strategic location, they respond well to surgery, radiation and chemotherapy and the prognosis is very good. We report a case of 23years young male presented with gait disturbance, weakness in lower extremities, visual impairment and moderate fatigue. His medical history revealed that he was symptomatic by DI (polyuria, polydypsia and weight loss) and received treatment with adiuretin for a period of 3 years. Computed tomography (CT) scans demonstrated well circumscribed tumor lesions with a homogeneous contrast enhancement in the suprasellar and pineal regions. A germinoma was verified histologically. A good treatment response to surgery, radiation, chemotherapy and management of endocrine insufficiency was achieved. The postoperative neurological, CT and immunological follow-up corresponded with the clinical course of the disease and the results of therapeutic procedures.

Seizures are the presenting symptom in about 20% to 40% of patients with brain tumors and occur in about half of them during the course of the disease. Mixed gliomas, oligodendrogliomas and astrocytomas are most frequently associated with epilepsy. In patients with postoperative seizures neuroimaging should be performed to exclude tumor recurrence. We reported a case of 56-years old female admitted to our hospital with clinical signs of increased postoperative partial seizures activity and mild focal deficit. Medical history revealed that patient became symptomatic by brain tumor with sudden onset of generalized tonic-clonic seizure sixteen years ago. A low-grade astrocytoma was verified histologically after surgery. Ten years later the patient experienced right-sided partial motor and sensory seizures. Antiepileptic therapy was initiated and temporary good control of epilepsy was achieved. Current EEG findings showed left frontotemporal focus of epileptic activity. On contrast-enhanced CT scans no recurrent tumor mass was visualized. Brain SPECT images demonstrated no Tc-99m MIBI uptake. Despite the clinical presentation of refractory partial seizures, tumor recurrence was not detected. Based on the literature analysis and our own data, different etiological mechanisms underlying tumor-associated epilepsy were discussed.

Introduction : Multiple sclerosis (MS) is a progressive demyelinating neurologic disease characterized by a different extent of comorbidity. Everydaily life is challenging for these patients because of physical and psychological impairments. The purpose of this study was to comparatively analyze the relationships between several health-related quality of life aspects of MS patients` in case of accompanying diseases. Material and methods : Health-related uality of life of 80 MS patients, 56 females and 24 males, at a mean age of 49 years, was examined by means of Short Form-36 questionnaire. Forty patients presented with at least one accompanying chronic disease. Results : These patients presented with similar Expanded Disability Status Scale scores of 2.0 or 2.5. Most questionnaire scores differed between MS patients without and with comorbidity. Usually, comorbidity additionally worsened patients` quality of life. There were statistically significant differences between the patients with MS alone and those with MS and comorbidity concerning the depression ( t =5.877; p

Magnetic resonance imaging has been widely used to aid the diagnostic process in patients with various disorders of the nervous system. White matter hyperintensities represent a frequent T2-MRI finding. They may be due to multiple sclerosis and other demyelinating diseases, systemic diseases and cerebrovascular disease, among other examples. Such lesions have also been described in patients with migraine. In this paper we present the case of a patient with unilateral headache attacks, accompanied by photophobia and phonophobia, whose MRI scan showed lesions of the cerebral white matter, reported as most likely due to multiple sclerosis. We review the literature on the topic and discuss some possible approaches to the differential diagnosis.

The role of lipid metabolism in the pathogenesis of Parkinson`s disease is still controversial. Most authors suggest that higher The role of lipid metabolism in the pathogenesis of Parkinson`s disease is still controversial. Most authors suggest that higher serum cholesterol may be associated with a lower risk of Parkinson`s disease. Debates exist as to whether essential tremor shares similar neuropathological mechanisms as Parkinson`s disease. We investigated serum total cholesterol and triglyceride levels in a clinical setting of Parkinson`s disease versus essential tremor patients. Two hundred and sixteen Parkinson`s disease patients (126 males), aged 68.04 years, with 4.58 years disease duration and 342 essential tremor patients (118 males), aged 69.39 years, with 5.3 years disease duration were included, hospitalized during a period of 7 years in First Clinic of Neurology, University St Marina Hospital, Varna, Bulgaria. We found insignificantly higher levels of serum total cholesterol and triglyceride in essential tremor patients. Results differ statistically only on gender level with increased cholesterol in males and triglycerides in females. Our findings may indicate divergent pathophysiological mechanisms underlying Parkinson`s disease and essential tremor. Further research may elucidate the role of lipid metabolism changes in both diseases. Biomed Rev 2015; 26: 43-46. Key words: serum total cholesterol, triglycerides, Parkinson`s disease, essential tremor

INTRODUCTION. There is rising evidence of the role of hyperglycemia, hyperlipidemia and dyslipidemia in the etiopathogenesis of acute ischemic stroke (AIS). There is a considerable risk for AIS in adult individuals in advanced and senile age with these abnormalities. Our purpose was to reveal the incidence rate of the disorders of glucose and lipid metabolism in the adult patients with AIS. Material and methods . We examined 129 male and 129 female AIS patients at a mean age of 71 years hospitalized in the First Clinic of Neurology, St. Marina University Hospital of Varna, in 2007-2013. The levels of blood glucose and of serum total cholesterol, triglycerides, HDL- and LDL-cholesterol at admission were examined. Statistical data processing was performed by variation (ANOVA as t -criterion was considered significant if p

Introduction: There is rising evidence of the role of hyperlipidemia and dyslipidemia in the development of acute ischemic stroke (AIS). There is a considerable risk for AIS in adult individuals with these abnormalities. Our purpose was to reveal the incidence rate of the disorders of lipid metabolism in adult AIS patients. Material and methods: We examined 129 male and 129 female patients with AIS at a mean age of 70.59±7.22 years hospitalized in the First Clinic of Neurology, St. Marina University Hospital of Varna in 2007-2013. The serum levels of total cholesterol, triglycerides, HDL- and LDL-cholesterol at admission were examined. Statistical data processing was performed by ANOVA as t -criterion was considered significant if p

Introduction: Effective and timely prevention of acute ischemic stroke (AIS) is characterized by a rising socio-medical importance as this is the most common cerebrovascular disease worldwide and in Bulgaria as well. Our purpose was to reveal the incidence rate of the disorders of glucose metabolism in AIS development among adult patients. Material and methods: We examined 129 male and 129 female patients with AIS at a mean age of 70.59±7.22 years hospitalized in the First Clinic of Neurology, St. Marina University Hospital of Varna in 2007-2013. Blood glucose concentrations at admission were examined. Statistical data processing was performed by variation (ANOVA as t -criterion was considered significant if p

Intracranial lipomas are rare lesions, infrequently indicated for neurosurgical treatment due to their benign course and significant surgery-related complications rate. The aim of this study was to collect, describe and analyze the patients with intracranial lipomas verified by PET-CT and reported in the literature up to date. The literature search was performed through Pub Med using the combination of the terms intracranial lipomas, CT, MRI and PET-CT. The thorough review of the relevant papers did not find even one case with PET-CT images of intracranial lipomas. The first two personal illustrative cases were demonstrated by our report. The value of PET-CT in the primary and differential diagnosis of intracranial lipomas was analyzed, in comparison with CT, MRI and PET-MRI.

Lyme disease is a multi-system disorder caused by the spirochete Borrelia burgdoferi. Eye manifestations are a rare involvement. We report two cases of patients who developed a retrobulbar optic neuritis and a cystoid macular edema as a sole clinical presenting in Lyme disease. A 42-year-old female presented with left eye decreased visual acuity and painful ocular movement. Dilated funduscopy and neurological examination were normal. A diagnosis of left eye retrobulbar optic neuritis was made. The brain and spinal cord MRI showed typical lesions characteristic of MS. Serological tests for Lyme disease revealed positive results for IgM ELISA and Western blot. The possible serologically proven Lyme disease was diagnosed. Visual acuity returned to normal following a course of high-dose steroids and intravenous antibiotic, after by oral antibiotic. A 28-year-old male presented with left eye blurred vision and intermittent blurring vision in his right eye. Dilated funduscopy revealed bilateral cystoid macular edema (left more than right). He was positive for Lyme serology, IgM ELISA and Western blot, and intravenous antibiotic therapy was commenced, followed by oral antibiotic. Visual acuity was restored and fuduscopy was normal. In summary, although Lyme disease is an uncommon cause of these neuro-ophthalmic complications, our two patients highlight the importance of considering this disorder as a differential diagnosis and to initiate an early adequate therapy.

Introduction : Progressive supranuclear palsy is a neurodegenerative disorder, described as a tauopathy. The neuroimaging and visual symptoms are among the most important in the diagnosis of this disease. The ophthalmoparesis mainly concerns voluntary eye movements. Patients mostly present with vertical palsy, involuntary eye movements, convergence insufficiency, and diplopia. Case report : A 62-year-old female patient was admitted to the hospital because of the gait disturbance and frequent falls. She had impaired memory, handwriting and speech for one year. On neurological and neuro-ophthalmological examinations, the patient presented with vertical gaze palsy, involuntary eye movements, dysarthria, tremor in the right hand, and cerebellar ataxia. Blood tests were normal. (18F)-FDG PET revealed bilateral zones of moderate hipometabolism in the regions of posterior frontal cortex, anterior cingulum, left thalamus, head of left striatum, and left temporal lobe. Neuropsychological tests revealed cognitive impairment (MMSE-26; IADL-1). Conclusion : Based on the literature review and our own notices, we suggest that (18F)-FDG PET scanning and neuro-ophthalmological examination in addition to structural neuroimaging and clinical findings play a crucial role in the differential diagnosis of PSP and other parkinsonian syndromes.

Introduction: Brain scintigraphy is one of the basic branches of nuclear medicine, which plays an important role in the diagnosis of neurological diseases. Functional neuroimaging techniques involve both SPECT and PET. More widely application found the coregistration of SPECT/CT and SPECT/MRI that integrate functional nuclear medicine with morphological images. Objective: To study the usefulness of (18F)-FDG PET/CT in patients with acute ischemic cerebral stroke. Material and methods: A total of 16 cases (10 males and 6 females, aged between 39 and 80) with acute ischemic cerebral stroke, admitted to First Clinic of Neurology at UMBAL `Sveta Marina` during the period of 2008-2013 year were included in the study. (18F)-FDG PET/CT scans were obtained by means of Phillips Gemini TF machinery, following the corresponding standard protocols. Results: In all patients were visualized hypodense and hypometabolic zones, corresponding to the location of brain infarction and border regions of reduced glucose metabolism, reflecting the so called `penumbra`. Conclusion: Based on the literature data and our own results, we confirm the clinical application of (18F)-FDG PET/CT in patients with acute ischemic strokes. We suggest that this modern method of co-registration might be useful for assessment of structural and metabolic cerebral disorders and possesses an important diagnostic and prognostic significance for the disease outcome.

PURPOSE: Nowadays most physicians experience problems with the proper diagnosis of the sacroiliac joint dysfunction. It is mainly due to the presence of numerous diagnostic tests of unclear clinical reliability and insufficient research. The objective of this study is to develop a highly efficient diagnostic approach to the sacroiliac dysfunction. MATERIAL AND METHODS: A total of 120 patients with dysfunction of the sacroiliac joint were examined by means of 7 tests. These tests were provisionally divided according to their association with testing of the real movement in the sacroiliac joint into specific tests such as De Winter phenomenon, spine-test and Rosina test and non-specific ones such as Patrick, Mennel I, pseudo-Lassegue and 3-step test. RESULTS: Against the very common initial data from all the tests a very distinctive result difference after manual therapy was present. The non-specific tests demonstrated a low level of clinical reliability when applied right after restoring the joint functionality. On the other hand, the specific tests presented with a clinical reliability of more than 91%. CONCLUSION: An eventual positive result of two specific tests mentioned above provides a diagnostic accuracy of 94% concerning the functional disorder/blockage of the sacroiliac joint. Scripta Scientifica Medica 2013; 45(2): 70-74.

PURPOSE: Parkinson's disease (PD) is the second most common neurodegenerative disease affecting approximately 5 million people worldwide. Some studies have found out an association between PD and type 2 diabetes mellitus (DMT2). Their results suggest a common pathophysiologic pathway. Other authors fail to establish any link between these two diseases. The aim of the present study is to search for a potential association between DMT2 and PD. MATERIAL AND METHODS: We investigated the medical records of 85 patients, 45 males and 40 females, aged 68.02±9.02 (range, 40-87) years and with disease duration of 4.98±..96 (range, 1-18) years. They were diagnosed as PD according to the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria and hospitalized for a two-year period. RESULTS: We established a prevalence of DMT2 in PD patients of 18.8%. We discussed the potential relationships between these two disorders of great medical, social and economic impact. Insulin levels contribute to normal brain function. CONCLUSION: The history of DMT2 or the use of antidiabetic drugs might be a risk factor for PD. Scripta Scientifica Medica 2013; 45(1): 79-81.

Direct invasion of the orbit by the neoplastic cells from systemic T-cell non-Hodgkin`s lymphoma is common. However, optic nerve involvement as an initial manifestation of relapsed disease is relatively rare. A 13-year old boy with systemic T-cell non-Hodgkin`s lymphoma at stage IV in remission complained of progressive visual loss in his left eye. Ophthalmoscopy detected left optic disk edema and retinal venous engorgement. Magnetic resonance imaging showed evidence of left optic nerve head infiltration. Optical coherence tomography indicated swollen left optic nerve head. A unilateral optic nerve infiltration as an initial isolated presentation of T-cell non-Hodgkin`s lymphoma relapse was diagnosed. The patient underwent systemic chemotherapy and whole brain radiotherapy of both orbits. Incomplete recovery of his left eye visual acuity was reported. Unfortunately, the child died of systemic relapse 5 months later. The rare optic nerve infiltration as an initial manifestation of T-cell lymphoma`s relapse requires urgent investigation and treatment. Scripta Scientifica Medica 2012; 44(2): 93-95.

Tumours of unknown etiology are a heterogeneous group of malignancies whose first presentation is a metastatic disease and the primary neoplasm site remains not detected by the time of initial diagnosis. Brain is a relatively common localization for metastases from various malignancies, mainly from lung, melanoma, kidney, etc. In certain cases, however, the primary tumour site could not be diagnosed by routine tests and additional methods are utilized in attempt to localize it. We aimed at evaluating the use of 99mTc-MIBI as a non-specific tumour marker in patients with brain metastases and unknown primary tumour site. The study covered 11 patients with brain metastases but without any evidence of primary tumour according to the routine diagnostic tests. A single i.v. dose of 20 mCi 99mTc-MIBI was used as a non-specific tumour marker. All the patients underwent the following examinations: dynamic perfusion study of the abdomen, scintimammography (females), SPECT of thorax, whole body scan, and brain SPECT performed consecutively by means of Diacam Siemens gamma camera. Two patients showed a pathologic MIBI uptake in the lung morphologically proven to be non-small cell lung cancer (NSCLC). Lesions were evident on SPECT only. One patient demonstrated MIBI uptake in the axillary lymph nodes, however, no primary tumour site was verified thereafter. The remaining 8 patients did not show any foci of abnormal MIBI uptake consistent with the primary tumour or extracranial metastases. Usage of 99mTc-MIBI as a non-specific tumour marker could be of value for detecting the primary tumour site in case of brain metastases of unknown etiology. Scripta Scientifica Medica 2012; 44(2): 41-44.

BACKGROUND: Bell's palsy may result from high blood pressure, diabetes, pre-eclampsia, vascular, infectious, genetic, and immunological causes. Accord ingly, we present a case of Bell's palsy associated with her pessimplex infection during pregnancy. CASE PRESENTATION: A 33-year-old pregnant woman was admitted to our clinic with sudden on set of in ability to close the right eye, excessive tearing, asymmetrical appearance of the mouth, facial twitching, and impaired sense of taste. Medical history revealed an occurrence of herpetic rash around the upper lip one week ago. Checking of facial nerves function recognized unilateral right-sided paralysis. EMG showed se vere partial axonal peripheral truncallesion of the right facial nerve and presence of denervation. The diagno sis was based on patient's his tory, physical and neuro logical examination, as well as on laboratory tests and EMG. CONCLUSION: Our case report suggests that the peripheral facial nerve paralysis might be as sociated with the increased susceptibility to her pessimplex virus infection during pregnancy. SSM, 2012;44(1):29-31

BACKGROUND: The frequency of the transient monocular visual loss (TMVL), lasting minutes or longer, varies from a single to many episodes, which are usually followed by complete recovery of vision. TMVL is related most commonly o occlusive carotid disease. The therapy of patients with TMCL is divided into surgical and medical. CASE1: A55-year-old female was admitted to the clinic, with 4 months history of TMVL of the right eye, lasting 2-3 minutes, followed by complete recovery. Neuro-ophthalmological examination was normal. Neuro imaging investigations revealed proximal part right internal carotid artery (ICA) stenosis of 70%, left ICA stenosis of 40%, King-King in the middle segment of ICA, causing stenosis of 14%, and incidental aneurysms of the intracranial part of right ICA andin M2 segment of right middle cerebral artery. CASE2: A 74-year-old female was admitted to the clinic, with 1 year history of TMVL of the right eye, lasting 4-5 minutes, followed by complete recovery. Neuro-ophthalmological examination was normal. Duplex scaning showed hemodynamically significant stenosis of the right ICA, with King-Kingintheleft. MRI reveale diffuse vascular pathology. CONCLUSION: These cases demonstrated a co-occurrence of hemodynamically significant carotid artery occlusion with multiple or diffuse vascular pathology in patients with TMVL. We suggest that the detailed history, neuro-ophthalmological, and neuroimaging examinations might be useful to determine the correct etiologic diagnosis and discuss the most effective therapeutic strategy in TMVL patients. Scripta Scientifica Medica 2011;43(2):83-85